LongevityMap variant group

Entry Details

Longevity Association: Non-significant
Population: Ashkenazi Jewish
Study Design: Next-generation sequencing was employed to identify novel variants in 988 candidate genes in 6 centenarians, revealing 89 novel non-synonymous SNPs. These were genotyped in 410 Ashkenazi Jewish controls and 390 centenarians.
Conclusions: Without correcting for multiple testing, the p.Y318C variant in PMS2 was significantly enriched while the p.V465A variant in GABRR3 was significantly depleted in centenarians

HGNC symbol: GABRR3
Aliases
Common name: gamma-aminobutyric acid type A receptor rho3 subunit (gene/pseudogene)
Description: The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012]
OMIM
Ensembl: ENSG00000183185
UniProt/Swiss-Prot: GBRR3_HUMAN
Entrez Gene: 200959
UniGene: 534578
HapMap: View on HapMap

HGNC symbol: PMS2
Aliases: MLH4; PMSL2; HNPCC4; PMS2CL
Common name: PMS1 homolog 2, mismatch repair system component
Description: The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016]
Other longevity studies of this gene: 5
OMIM: 600259
Ensembl: ENSG00000122512
UniProt/Swiss-Prot: B4DGM0_HUMAN
Entrez Gene: 5395
UniGene: 632637
HapMap: View on HapMap

GenAge model organism genes

Han et al. (2013)